Pericentric inversion of chromosome 18 in parents leading to a phenotypically normal child with segmental uniparental disomy 18

摘要: In this study, we report a familial inversion of chromosome 18, inv(18)(p11.31q21.33), in both members consanguineous couple. Their first child had inherited one balanced pericentric along with recombinant 18 resulting dup(18q)/del(18p), and mild dysmorphic features the absence mental developmental retardation. The second received two chromosomes from mother derivative dup(18p)/del(18q) father dup(18q)/del(18p). aberration was prenatally detected; however, as opposite aneuploidies were thought to compensate each other, family decided carry on pregnancy, knowing that uniparental disomy for segments outside could have an adverse influence development child. Uniparental confirmed by SNP arrays. child, who has been followed up until age 20 months, is healthy normal. It seems be reported case other lead segmental chromosome, maternal paternal.